NL
KRT1 - epidermolytic ichthyosis with palmoplantar keratoderma¹
This test is available for the following conditions:
- Conditions > Skin > Epidermolytic ichthyosis
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
139350
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KRT10 - epidermolytic ichthyosis without palmoplantar keratoderma ¹
This test is available for the following conditions:
- Conditions > Skin > Epidermolytic ichthyosis
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
148080
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KRT2 - superficial epidermolytic ichthyosis ¹
This test is available for the following conditions:
- Conditions > Skin > Epidermolytic ichthyosis
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600194
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
